ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2601T>G (p.Thr867=) (rs730881589)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000166047 SCV000216808 likely benign Hereditary cancer-predisposing syndrome 2014-09-16 criteria provided, single submitter clinical testing
Color RCV000166047 SCV000683494 likely benign Hereditary cancer-predisposing syndrome 2017-04-28 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000495789 SCV000578526 likely benign Breast-ovarian cancer, familial 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
GeneDx RCV000160216 SCV000210579 benign not specified 2014-10-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000588950 SCV000694614 uncertain significance not provided 2016-11-02 criteria provided, single submitter clinical testing Variant summary: The BRCA2 c.2601T>G (p.Thr867Thr) variant causes a synonymous change involving a non-conserved nucleotide with 5/5 splice prediction tools predict no significant impact on normal splicing and ESE finder predicts that this variant may affect ESE sites, although these predictions have yet to be functionally assessed. The variant of interest has not been observed in controls (ExAC, 1000 Gs, or ESP), nor has it been, to our knowledge, reported in affected individuals via publications. Multiple clinical diagnostic laboratories have cited the variant as "likely benign." Therefore, until additional information becomes available (ie, clinical and functional studies), the variant of interest has been classified as a "Variant of Uncertain Significance - Possibly Benign."
Invitae RCV000471612 SCV000560414 likely benign Hereditary breast and ovarian cancer syndrome 2016-12-09 criteria provided, single submitter clinical testing

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